ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.459A>C (p.Gly153=)

gnomAD frequency: 0.00002  dbSNP: rs765102730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320422 SCV000340234 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001397087 SCV001598827 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-12-04 criteria provided, single submitter clinical testing

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